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rs1057517400

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GCAA;GCAA) 0 common in clinvar
Make rs1057517400(-;-)
Make rs1057517400(-;GCAA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64758326
GenePYGM
is asnp
is mentioned by
dbSNPrs1057517400
dbSNP (old)rs1057517400
ClinGenrs1057517400
ebirs1057517400
HLIrs1057517400
Exacrs1057517400
Gnomadrs1057517400
Varsomers1057517400
Maprs1057517400
PheGenIrs1057517400
Biobankrs1057517400
1000 genomesrs1057517400
hgdprs1057517400
ensemblrs1057517400
gopubmedrs1057517400
geneviewrs1057517400
scholarrs1057517400
googlers1057517400
pharmgkbrs1057517400
gwascentralrs1057517400
openSNPrs1057517400
23andMers1057517400
23andMe allrs1057517400
SNPshotrs1057517400
SNPdbers1057517400
MSV3drs1057517400
GWAS Ctlgrs1057517400
Max Magnitude0
ClinVar
Risk rs1057517400(-;-)
Alt rs1057517400(-;-)
Reference Rs1057517400(GCAA;GCAA)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64525798_64525801delTTGC
CLNSRC
CLNACC RCV000411763.1,